Novel CYP4V2 gene mutation in a Mexican patient with Bietti's crystalline corneoretinal dystrophy

Current Eye Research

Volumn 33, Issue 4, 2008, Pages 313-318

  Zenteno, Juan C ^a,b   Ayala Ramirez, Raul ^a   Graue Wiechers, Federico ^a  

^a Institute of Ophthalmology   (Mexico)

^b INSTITUTE OF OPHTHALMOLOGY CONDE DE VALENCIANA   (Mexico)

Author keywords

Bietti's dystrophy; Corneoretinal dystrophy; CYP4V2 gene; Retinal dystrophy

Indexed keywords

ISOLEUCINE; THREONINE;

AGED; ARTICLE; BIETTI CRYTALLINE CORNEORETINAL DYSTROPHY; CASE REPORT; CYP4V2 GENE; ELECTRORETINOGRAM; EYE EXAMINATION; FEMALE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GONIOSCOPY; HUMAN; HUMAN CELL; INTRAOCULAR PRESSURE; KERATOMETRY; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PERIMETRY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA ANGIOGRAPHY; RETINITIS PIGMENTOSA; SLIT LAMP; SPECULAR MICROSCOPY; TONOMETRY; VISUAL ACUITY;

AGED; AMINO ACID SUBSTITUTION; CORNEAL DYSTROPHIES, HEREDITARY; CYTOCHROME P-450 ENZYME SYSTEM; CYTOSINE; DIAGNOSTIC TECHNIQUES, OPHTHALMOLOGICAL; FEMALE; FUNDUS OCULI; HUMANS; INDIANS, NORTH AMERICAN; ISOLEUCINE; MEXICO; MUTATION; RETINAL DISEASES; THREONINE; THYMINE;

EID: 41949135860     PISSN: 02713683     EISSN: 14602202     Source Type: Journal    
DOI: 10.1080/02713680801983217     Document Type: Article

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